rs1800630
Positions:
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The variant allele was found at a frequency of 0.144 in 151,842 control chromosomes in the GnomAD database, including 1,698 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as protective (no stars).
Frequency
Genomes: 𝑓 0.14 ( 1698 hom., cov: 31)
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: -2.77
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BP6
Variant 6-31574699-C-A is Benign according to our data. Variant chr6-31574699-C-A is described in ClinVar as [protective]. Clinvar id is 12390.Status of the report is no_assertion_criteria_provided, 0 stars. We mark this variant Likely_benign, oryginal submission is: [protective].
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.244 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.144 AC: 21898AN: 151724Hom.: 1699 Cov.: 31
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.144 AC: 21905AN: 151842Hom.: 1698 Cov.: 31 AF XY: 0.146 AC XY: 10802AN XY: 74186
GnomAD4 genome
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21905
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31
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10802
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74186
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Asia WGS
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790
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3478
ClinVar
Significance: protective
Submissions summary: Benign:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Alzheimer disease, protection against Benign:1
protective, no assertion criteria provided | literature only | OMIM | Aug 01, 2006 | - - |
Computational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at